Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of the mitochondrial enzyme, methylmalonyl-CoA mutase (MCM). The main treatments for MMA patients are dietary restriction of propiogenic amino acids and carnitine supplementation. Liver or combined liver/kidney transplantation has been used to treat those with the most severe clinical manife...

Neuroimaging has become an indispensable tool in understanding the regions of susceptibility , progression of disease, and therapeutic effectiveness for the management of neurologic diseases in humans. Metabolic diseases are recognized more frequently now as the biochemical basis is understood better. In addition, and as illustrated in this issue of the AJNR [1-3] , clinicians can benefit immen...

Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders neonatal vitamin B12 deficiency, report on the identification cofactor-responsive disease variants. This evaluation previously established combined multiple-tier algo...

Cardiotocography is the primary method for biophysical assessment of a fetal state. It is based mainly on the recording and analysis of fetal heart rate signal (FHR). Computer systems for fetal monitoring provide a quantitative description of FHR signals, however the effective methods for their qualitative assessment are still needed. The measurements of hydronium ions concentration (pH) in new...

1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...

One of the most common recessively inherited organic acidemias is the Propionic Acidosis (PA) which results from Propionyle-CoA Carboxylase (PCC) enzyme deficiency that is necessary for the catabolism of the branched chain Amino Acids and other metabolites. Classically this disease presented with high anion gap metabolic acidosis with its clinical consequences. We report 4 patients who presente...

BACKGROUND Urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. In the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. Gas chromatog...